Phenotype #0000337599

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00448411
Associated disease	EIEE
Phenotype details	see paper; ..., early infantile epileptic encephalopathy, severe neurologic developmental delay, nystagmus, retinal degeneration, cardiac conduction disorder
Diagnosis/Initial	early infantile epileptic encephalopathy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	LDMLS1
Age/Examination	10y (10 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Intellectual_dis	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-03-07 21:18:41 +01:00 (CET)
Date last edited	N/A

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